Genomics on the front line: GLHs and GMSAs

The scientific and clinical arms of the Genomic Medicine Service have made a huge contribution to the journey of genomics in the NHS

Genomic testing has become a key part of a modern healthcare system. But it does not happen overnight: people and organisations have had to work together to get here. Within the NHS in England, these include the Genomic Laboratory Hubs (GLHs) and Genomic Medicine Service Alliances (GMSAs).

GLHs were created in 2018, followed by the GMSAs in 2020. Together, they work as the scientific and clinical arms of the Genomic Medicine Service to bring the advantages of genomics into NHS clinics and trusts, to the benefit of patients and their families. In this article, as part of our #GenomicsConversation week, we look at a selection of contemporary GLH and GMSA projects that have helped the NHS along in its journey of genomics.

Please note that the below covers England. For more information on genomics in Wales, Scotland and Northern Ireland, please see our resource on genomic testing in the devolved nations.

Empowering patients to make informed choices

Explaining what is involved in a genomic test in an easy-to-understand way can be challenging. This is even more so if the patient themselves is coming to terms with the emotional impact of a recent and life-changing diagnosis. GMSAs help clinicians to help patients make informed decisions when it comes to having a genomic test.

The South West GMSA partnered with other stakeholders to create a patient empowerment project. Through a series of six videos, they discuss what the impact of breast cancer may be on other family members. The South West GMSA’s series clarifies the consent process for screening and empowers those at risk of breast cancer to make informed choices for their healthcare.

Creating new testing pathways

All NHS genomic tests in England are defined centrally via the National Genomic Test Directory. This helps everyone using NHS services to get equal and fair access to genomic testing. Rare and inherited disease tests are uniquely referenced via one of more than 400 ‘R’ codes, such as R14 or R445 (cancer-related testing has its own ‘M’ codes). Before a new test can be rolled out nationally, it may be piloted by a GMSA and GLH.

The Central and South GMSA/GLH trialled and developed the R445 screening pathway after they ran an initial proof-of-concept project. Pregnant women are typically offered testing via the NHS’s fetal anomaly screening programme. However, women who have previously carried a child with one of the trisomy syndromes, Down, Edwards or Patau, can now be offered a non-invasive prenatal test (NIPT) via R445, earlier in pregnancy. This is because those women are at higher risk of more trisomy-syndrome pregnancies.

As R445 uses NIPT, it provides a more sensitive test than the ‘combined test‘ and the ‘quadruple blood screening test‘ normally provided to pregnant woman. For couples who have had a trisomy pregnancy previously, R445 offers them information to support decision-making at an earlier point in pregnancy. Thanks to Central and South’s efforts, the code has been made available for clinical use this year.

Optimising the return of genomic test results

Returning a whole genome sequencing (WGS) test is a labour-intensive process. This is due to factors such as transporting and processing the sample, sequencing and analysing the data, interpreting the results and reporting it back. Other things, such as capacity in the system, can play a role in turnaround time too.

In neonatal and paediatric intensive care units, where a quick diagnosis can make a profound difference, a swift turnaround time is vital. To address this need, in 2022 a rapid WGS test was launched for severely ill babies and children. This following the successful roll-out of 2020’s rapid whole exome sequencing test.  This was a world-first service, and it is based out of the Exeter Clinical Laboratory through a partnership with the South West GMSA/GLH.

Today, for eligible patients, the national rapid WGS service can return results within two to three weeks. Clinicians in the genetics specialty can make use of the rapid WGS service under code R14, as described in the National Genomic Test Directory.

Finding those with hidden genomic conditions

A large number of people have an undiagnosed inherited condition. It’s effectively hidden. If not managed, it may result in poor health down the line. For example, Lynch syndrome can lead to certain types of cancer, and inherited cardiovascular conditions (ICCs) may lead to sudden unexpected death (SUD).

To help address the latter, the NHS-C-SUD programme was trialled in coroner services. It was conducted across England, with the East and South East GMSA/GLHs acting as leads. The aim of the programme was to offer genomic testing to the parents, siblings and children of a deceased individual who had died suddenly due to an ICC. By making the family aware of the ‘hidden’ ICC, it opened up management and treatment options. Thanks to the GMSA/GLH-led NHS-C-SUD trial, the HM Courts and Tribunals Service’s chief coroner has recommended clinical referral where ICC-related death is suspected.

Meanwhile, building out from the Royal Marsden Partners’ 2019 project, a South East GMSA/GLH initiative looked to bring Lynch syndrome testing to the whole of England. About 95% of people who have this cancer predisposition condition are undiagnosed, meaning they are not benefiting from monitoring or treatment. With the South East GMSA/GLH supporting the mainstreaming of the Lynch syndrome testing pathways, it means that hospitals can offer standardised and equitable screening for colorectal and endometrial cancer patients. For NHS professionals, National Lynch Syndrome project online training is available via the NHS’s Learning Hub website.

How can I find out more about my local GMSA and GLH?

You can find out more about your regional GMSA and GLH, including ongoing important genomics projects, though their websites which can be found via our online GeNotes resource. If you’re not sure which GMSA or GLH links up with your NHS trust, take a look at our online map.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.